Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.400 GermlineCausalMutation disease ORPHANET A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. 28493397 2017
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.400 Biomarker disease HPO
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.310 GeneticVariation disease BEFREE Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation. 22171686 2012
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.310 GermlineCausalMutation disease ORPHANET PAX6 missense mutations associated in patients with optic nerve malformation. 16604056 2006
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.310 GermlineCausalMutation disease ORPHANET Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 12721955 2003
Entrez Id: 7855
Gene Symbol: FZD5
FZD5 		0.300 GermlineCausalMutation disease ORPHANET A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma. 26908622 2016
Entrez Id: 6297
Gene Symbol: SALL2
SALL2 		0.300 GermlineCausalMutation disease ORPHANET Mutation of SALL2 causes recessive ocular coloboma in humans and mice. 24412933 2014
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6 		0.300 GermlineCausalMutation disease ORPHANET ABCB6 mutations cause ocular coloboma. 22226084 2012
Entrez Id: 4094
Gene Symbol: MAF
MAF 		0.120 GeneticVariation disease BEFREE Individuals with a mutation in MAF may have pulverulent cataract alone or cataract in association with microcornea or iris coloboma. 12642301 2003
Entrez Id: 4094
Gene Symbol: MAF
MAF 		0.120 GeneticVariation disease BEFREE Through mutation screening of a panel of patients with hereditary congenital cataract we identified a mutation in MAF in a three-generation family with cataract, microcornea and iris coloboma. 11772997 2002
Entrez Id: 4094
Gene Symbol: MAF
MAF 		0.120 Biomarker disease HPO
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA 		0.110 GeneticVariation disease BEFREE To our knowledge, this is the first case to date in which an Arg116Cys mutation in the CRYAA gene was associated with nuclear cataract and iris coloboma. 17296897 2007
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 GeneticVariation disease BEFREE We present a female child with features of the CHARGE association, including iris coloboma, large ventricular septum defect (VSD), external ear abnormalities, severe growth retardation and moderate mental delay. 9660062 1998
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA 		0.110 Biomarker disease HPO
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.110 Biomarker disease HPO
Entrez Id: 200894
Gene Symbol: ARL13B
ARL13B 		0.100 Biomarker disease HPO
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A 		0.100 Biomarker disease HPO
Entrez Id: 28952
Gene Symbol: CCDC22
CCDC22 		0.100 Biomarker disease HPO
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E 		0.100 Biomarker disease HPO
Entrez Id: 6997
Gene Symbol: TDGF1
TDGF1 		0.100 Biomarker disease HPO
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2 		0.100 Biomarker disease HPO
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		0.100 Biomarker disease HPO
Entrez Id: 2253
Gene Symbol: FGF8
FGF8 		0.100 Biomarker disease HPO
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		0.100 Biomarker disease HPO
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT 		0.100 Biomarker disease HPO